• Posted February 20, 2024

Gene-Based Tests Could Predict Your Odds for Common Illnesses

Accurate genetic tests for 10 common diseases are nearly ready for everyday use in doctor's offices, a new study says.

Gene scans for 10 common illnesses have been honed to the point that they now are being road-tested in clinical research, according to a team at the Broad Institute of MIT and Harvard.

The tests evaluate a person's specific genetic risk for conditions like atrial fibrillation, breast cancer, kidney disease, heart disease, high cholesterol, prostate cancer, asthma, type 1 and type 2 diabetes and obesity.

“With this work, we've taken the first steps toward showing the potential strength and power of these scores across a diverse population,” said researcher Niall Lennon, chief scientific officer of Broad Clinical Labs.

“We hope in the future this kind of information can be used in preventive medicine to help people take actions that lower their risk of disease,” Lennon added in a Broad Institute news release.

Researchers honed the genetic risk scores using a diverse group of 2,500 people. About one in five participants were found to be at high risk for at least one of the 10 targeted diseases, results show.

The tests now are being used to evaluate the risk of 25,000 participants at 10 academic medical centers across the United States, researchers said. The centers are all part of the Electronic Medical Records and Genomics network, a federally funded effort to study how genetic data can improve health care.

For each of the 10 diseases, researchers identified and verified exact spots in the genome to be analyzed for the risk score. 

To make the risk scores more accurate, researchers also widened their evidence review to include people of different genetic ancestries. Up to now, most such tests have been based largely on genetic data from people of European ancestry.

This team used data from the federally funded All of Us Research Program, which is collecting health information from 1 million people from diverse backgrounds in the United States.

The All of Us dataset includes three times more people of non-European ancestry than other major genetic collections of data used to develop genetic risk scores, researchers said.

As a result, the new tests are better at calibrating a person's genetic risk score to their particular ancestry.

“We can't fix all biases in the risk scores, but we can make sure that if a person is in a high-risk group for a disease, they'll get identified as high-risk, regardless of what their genetic ancestry is,” Lennon said.

The researchers also evaluated scores that indicate a disease risk that could be lowered through medical treatment, screening to catch early illness or lifestyle changes like eating right, exercising and sleeping well.

“It was important that we weren't giving people results that they couldn't do anything about,” Lennon said.

The new study was published Feb. 19 in the journal Nature Medicine.

Follow-up studies will evaluate how well the scores predicted risk, and how risk scores might influence patients' health care.

“Ultimately, the network wants to know what it means for a person to receive information that says they're at high risk for one of these diseases,” Lennon said.

More information

The U.S. Centers for Disease Control and Prevention have more about genetic risk scores.

SOURCE: Broad Institute of MIT and Harvard, news release, Feb. 19, 2024